Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206144919T>ACA350057041NDUFS1c.845A>T (p.Asn282Ile)
c.674A>T (p.Asn225Ile)
c.512A>T (p.Asn171Ile)
c.737A>T (p.Asn246Ile)
c.887A>T (p.Asn296Ile)
c.497A>T (p.Asn166Ile)
c.86A>T (p.Asn29Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.206144919T>CCA350057045NDUFS1c.845A>G (p.Asn282Ser)
c.674A>G (p.Asn225Ser)
c.512A>G (p.Asn171Ser)
c.737A>G (p.Asn246Ser)
c.887A>G (p.Asn296Ser)
c.497A>G (p.Asn166Ser)
c.86A>G (p.Asn29Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.206144919T>GCA350057048NDUFS1c.845A>C (p.Asn282Thr)
c.674A>C (p.Asn225Thr)
c.512A>C (p.Asn171Thr)
c.737A>C (p.Asn246Thr)
c.887A>C (p.Asn296Thr)
c.497A>C (p.Asn166Thr)
c.86A>C (p.Asn29Thr)
2g.206144919T=CA2496487365NDUFS1c.845A= (p.Asn282=)
c.674A= (p.Asn225=)
c.512A= (p.Asn171=)
c.737A= (p.Asn246=)
c.887A= (p.Asn296=)
c.497A= (p.Asn166=)
c.86A= (p.Asn29=)
2g.206144920T>ACA350057052NDUFS1c.844A>T (p.Asn282Tyr)
c.673A>T (p.Asn225Tyr)
c.511A>T (p.Asn171Tyr)
c.736A>T (p.Asn246Tyr)
c.886A>T (p.Asn296Tyr)
c.496A>T (p.Asn166Tyr)
c.85A>T (p.Asn29Tyr)
2g.206144920T>CCA63665020NDUFS1c.844A>G (p.Asn282Asp)
c.673A>G (p.Asn225Asp)
c.511A>G (p.Asn171Asp)
c.736A>G (p.Asn246Asp)
c.886A>G (p.Asn296Asp)
c.496A>G (p.Asn166Asp)
c.85A>G (p.Asn29Asp)
 dbSNP
2g.206144920T>GCA350057057NDUFS1c.844A>C (p.Asn282His)
c.673A>C (p.Asn225His)
c.511A>C (p.Asn171His)
c.736A>C (p.Asn246His)
c.886A>C (p.Asn296His)
c.496A>C (p.Asn166His)
c.85A>C (p.Asn29His)
2g.206144920T=CA2496487366NDUFS1c.844A= (p.Asn282=)
c.673A= (p.Asn225=)
c.511A= (p.Asn171=)
c.736A= (p.Asn246=)
c.886A= (p.Asn296=)
c.496A= (p.Asn166=)
c.85A= (p.Asn29=)
2g.206144921G>ACA430952606NDUFS1c.843C>T (p.Ile281=)
c.672C>T (p.Ile224=)
c.510C>T (p.Ile170=)
c.735C>T (p.Ile245=)
c.885C>T (p.Ile295=)
c.495C>T (p.Ile165=)
c.84C>T (p.Ile28=)
 gnomAD v4 COSMIC COSMIC
2g.206144921G>CCA350057061NDUFS1c.843C>G (p.Ile281Met)
c.672C>G (p.Ile224Met)
c.510C>G (p.Ile170Met)
c.735C>G (p.Ile245Met)
c.885C>G (p.Ile295Met)
c.495C>G (p.Ile165Met)
c.84C>G (p.Ile28Met)
2g.206144921G>TCA430952612NDUFS1c.843C>A (p.Ile281=)
c.672C>A (p.Ile224=)
c.510C>A (p.Ile170=)
c.735C>A (p.Ile245=)
c.885C>A (p.Ile295=)
c.495C>A (p.Ile165=)
c.84C>A (p.Ile28=)
2g.206144922A>CCA350057071NDUFS1c.842T>G (p.Ile281Ser)
c.671T>G (p.Ile224Ser)
c.509T>G (p.Ile170Ser)
c.734T>G (p.Ile245Ser)
c.884T>G (p.Ile295Ser)
c.494T>G (p.Ile165Ser)
c.83T>G (p.Ile28Ser)
2g.206144922A>GCA350057074NDUFS1c.842T>C (p.Ile281Thr)
c.671T>C (p.Ile224Thr)
c.509T>C (p.Ile170Thr)
c.734T>C (p.Ile245Thr)
c.884T>C (p.Ile295Thr)
c.494T>C (p.Ile165Thr)
c.83T>C (p.Ile28Thr)
2g.206144922A>TCA350057077NDUFS1c.842T>A (p.Ile281Asn)
c.671T>A (p.Ile224Asn)
c.509T>A (p.Ile170Asn)
c.734T>A (p.Ile245Asn)
c.884T>A (p.Ile295Asn)
c.494T>A (p.Ile165Asn)
c.83T>A (p.Ile28Asn)
2g.206144923T>ACA350057080NDUFS1c.841A>T (p.Ile281Phe)
c.670A>T (p.Ile224Phe)
c.508A>T (p.Ile170Phe)
c.733A>T (p.Ile245Phe)
c.883A>T (p.Ile295Phe)
c.493A>T (p.Ile165Phe)
c.82A>T (p.Ile28Phe)
2g.206144923T>CCA350057083NDUFS1c.841A>G (p.Ile281Val)
c.670A>G (p.Ile224Val)
c.508A>G (p.Ile170Val)
c.733A>G (p.Ile245Val)
c.883A>G (p.Ile295Val)
c.493A>G (p.Ile165Val)
c.82A>G (p.Ile28Val)
 ClinVar dbSNP gnomAD v4
2g.206144923T>GCA350057087NDUFS1c.841A>C (p.Ile281Leu)
c.670A>C (p.Ile224Leu)
c.508A>C (p.Ile170Leu)
c.733A>C (p.Ile245Leu)
c.883A>C (p.Ile295Leu)
c.493A>C (p.Ile165Leu)
c.82A>C (p.Ile28Leu)
2g.206144923T=CA2496487367NDUFS1c.841A= (p.Ile281=)
c.670A= (p.Ile224=)
c.508A= (p.Ile170=)
c.733A= (p.Ile245=)
c.883A= (p.Ile295=)
c.493A= (p.Ile165=)
c.82A= (p.Ile28=)
2g.206144924G>ACA430952630NDUFS1c.840C>T (p.Asp280=)
c.669C>T (p.Asp223=)
c.507C>T (p.Asp169=)
c.732C>T (p.Asp244=)
c.882C>T (p.Asp294=)
c.492C>T (p.Asp164=)
c.81C>T (p.Asp27=)
 dbSNP gnomAD v3 gnomAD v4
2g.206144924G>CCA350057103NDUFS1c.840C>G (p.Asp280Glu)
c.669C>G (p.Asp223Glu)
c.507C>G (p.Asp169Glu)
c.732C>G (p.Asp244Glu)
c.882C>G (p.Asp294Glu)
c.492C>G (p.Asp164Glu)
c.81C>G (p.Asp27Glu)
2g.206144924G=CA2496487368NDUFS1c.840C= (p.Asp280=)
c.669C= (p.Asp223=)
c.507C= (p.Asp169=)
c.732C= (p.Asp244=)
c.882C= (p.Asp294=)
c.492C= (p.Asp164=)
c.81C= (p.Asp27=)
2g.206144924G>TCA350057096NDUFS1c.840C>A (p.Asp280Glu)
c.669C>A (p.Asp223Glu)
c.507C>A (p.Asp169Glu)
c.732C>A (p.Asp244Glu)
c.882C>A (p.Asp294Glu)
c.492C>A (p.Asp164Glu)
c.81C>A (p.Asp27Glu)
2g.206144925T>ACA350057106NDUFS1c.839A>T (p.Asp280Val)
c.668A>T (p.Asp223Val)
c.506A>T (p.Asp169Val)
c.731A>T (p.Asp244Val)
c.881A>T (p.Asp294Val)
c.491A>T (p.Asp164Val)
c.80A>T (p.Asp27Val)
2g.206144925T>CCA350057109NDUFS1c.839A>G (p.Asp280Gly)
c.668A>G (p.Asp223Gly)
c.506A>G (p.Asp169Gly)
c.731A>G (p.Asp244Gly)
c.881A>G (p.Asp294Gly)
c.491A>G (p.Asp164Gly)
c.80A>G (p.Asp27Gly)
 gnomAD v4
2g.206144925T>GCA350057111NDUFS1c.839A>C (p.Asp280Ala)
c.668A>C (p.Asp223Ala)
c.506A>C (p.Asp169Ala)
c.731A>C (p.Asp244Ala)
c.881A>C (p.Asp294Ala)
c.491A>C (p.Asp164Ala)
c.80A>C (p.Asp27Ala)
2g.206144926C>ACA350057113NDUFS1c.838G>T (p.Asp280Tyr)
c.667G>T (p.Asp223Tyr)
c.505G>T (p.Asp169Tyr)
c.730G>T (p.Asp244Tyr)
c.880G>T (p.Asp294Tyr)
c.490G>T (p.Asp164Tyr)
c.79G>T (p.Asp27Tyr)
2g.206144926C>GCA350057114NDUFS1c.838G>C (p.Asp280His)
c.667G>C (p.Asp223His)
c.505G>C (p.Asp169His)
c.730G>C (p.Asp244His)
c.880G>C (p.Asp294His)
c.490G>C (p.Asp164His)
c.79G>C (p.Asp27His)
2g.206144926C>TCA350057115NDUFS1c.838G>A (p.Asp280Asn)
c.667G>A (p.Asp223Asn)
c.505G>A (p.Asp169Asn)
c.730G>A (p.Asp244Asn)
c.880G>A (p.Asp294Asn)
c.490G>A (p.Asp164Asn)
c.79G>A (p.Asp27Asn)
2g.206144927C>ACA350057119NDUFS1c.837G>T (p.Glu279Asp)
c.666G>T (p.Glu222Asp)
c.504G>T (p.Glu168Asp)
c.729G>T (p.Glu243Asp)
c.879G>T (p.Glu293Asp)
c.489G>T (p.Glu163Asp)
c.78G>T (p.Glu26Asp)
2g.206144927C=CA2496487369NDUFS1c.837G= (p.Glu279=)
c.666G= (p.Glu222=)
c.504G= (p.Glu168=)
c.729G= (p.Glu243=)
c.879G= (p.Glu293=)
c.489G= (p.Glu163=)
c.78G= (p.Glu26=)
2g.206144927C>GCA350057121NDUFS1c.837G>C (p.Glu279Asp)
c.666G>C (p.Glu222Asp)
c.504G>C (p.Glu168Asp)
c.729G>C (p.Glu243Asp)
c.879G>C (p.Glu293Asp)
c.489G>C (p.Glu163Asp)
c.78G>C (p.Glu26Asp)
2g.206144927C>TCA430952677NDUFS1c.837G>A (p.Glu279=)
c.666G>A (p.Glu222=)
c.504G>A (p.Glu168=)
c.729G>A (p.Glu243=)
c.879G>A (p.Glu293=)
c.489G>A (p.Glu163=)
c.78G>A (p.Glu26=)
 dbSNP gnomAD v2 gnomAD v4
2g.206144928T>ACA350057126NDUFS1c.836A>T (p.Glu279Val)
c.665A>T (p.Glu222Val)
c.503A>T (p.Glu168Val)
c.728A>T (p.Glu243Val)
c.878A>T (p.Glu293Val)
c.488A>T (p.Glu163Val)
c.77A>T (p.Glu26Val)
2g.206144928T>CCA350057131NDUFS1c.836A>G (p.Glu279Gly)
c.665A>G (p.Glu222Gly)
c.503A>G (p.Glu168Gly)
c.728A>G (p.Glu243Gly)
c.878A>G (p.Glu293Gly)
c.488A>G (p.Glu163Gly)
c.77A>G (p.Glu26Gly)
2g.206144928T>GCA350057134NDUFS1c.836A>C (p.Glu279Ala)
c.665A>C (p.Glu222Ala)
c.503A>C (p.Glu168Ala)
c.728A>C (p.Glu243Ala)
c.878A>C (p.Glu293Ala)
c.488A>C (p.Glu163Ala)
c.77A>C (p.Glu26Ala)
2g.206144929C>ACA350057138NDUFS1c.835G>T (p.Glu279Ter)
c.664G>T (p.Glu222Ter)
c.502G>T (p.Glu168Ter)
c.727G>T (p.Glu243Ter)
c.877G>T (p.Glu293Ter)
c.487G>T (p.Glu163Ter)
c.76G>T (p.Glu26Ter)
2g.206144929C>GCA350057144NDUFS1c.835G>C (p.Glu279Gln)
c.664G>C (p.Glu222Gln)
c.502G>C (p.Glu168Gln)
c.727G>C (p.Glu243Gln)
c.877G>C (p.Glu293Gln)
c.487G>C (p.Glu163Gln)
c.76G>C (p.Glu26Gln)
2g.206144929C>TCA350057146NDUFS1c.835G>A (p.Glu279Lys)
c.664G>A (p.Glu222Lys)
c.502G>A (p.Glu168Lys)
c.727G>A (p.Glu243Lys)
c.877G>A (p.Glu293Lys)
c.487G>A (p.Glu163Lys)
c.76G>A (p.Glu26Lys)
2g.206144930A>CCA350057158NDUFS1c.834T>G (p.His278Gln)
c.663T>G (p.His221Gln)
c.501T>G (p.His167Gln)
c.726T>G (p.His242Gln)
c.876T>G (p.His292Gln)
c.486T>G (p.His162Gln)
c.75T>G (p.His25Gln)
2g.206144930A>GCA430952700NDUFS1c.834T>C (p.His278=)
c.663T>C (p.His221=)
c.501T>C (p.His167=)
c.726T>C (p.His242=)
c.876T>C (p.His292=)
c.486T>C (p.His162=)
c.75T>C (p.His25=)
2g.206144930A>TCA350057150NDUFS1c.834T>A (p.His278Gln)
c.663T>A (p.His221Gln)
c.501T>A (p.His167Gln)
c.726T>A (p.His242Gln)
c.876T>A (p.His292Gln)
c.486T>A (p.His162Gln)
c.75T>A (p.His25Gln)
2g.206144931T>ACA350057162NDUFS1c.833A>T (p.His278Leu)
c.662A>T (p.His221Leu)
c.500A>T (p.His167Leu)
c.725A>T (p.His242Leu)
c.875A>T (p.His292Leu)
c.485A>T (p.His162Leu)
c.74A>T (p.His25Leu)
2g.206144931T>CCA2070647NDUFS1c.833A>G (p.His278Arg)
c.662A>G (p.His221Arg)
c.500A>G (p.His167Arg)
c.725A>G (p.His242Arg)
c.875A>G (p.His292Arg)
c.485A>G (p.His162Arg)
c.74A>G (p.His25Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206144931T>GCA350057165NDUFS1c.833A>C (p.His278Pro)
c.662A>C (p.His221Pro)
c.500A>C (p.His167Pro)
c.725A>C (p.His242Pro)
c.875A>C (p.His292Pro)
c.485A>C (p.His162Pro)
c.74A>C (p.His25Pro)
 gnomAD v4
2g.206144931T=CA2496487370NDUFS1c.833A= (p.His278=)
c.662A= (p.His221=)
c.500A= (p.His167=)
c.725A= (p.His242=)
c.875A= (p.His292=)
c.485A= (p.His162=)
c.74A= (p.His25=)
2g.206144932G>ACA350057170NDUFS1c.832C>T (p.His278Tyr)
c.661C>T (p.His221Tyr)
c.499C>T (p.His167Tyr)
c.724C>T (p.His242Tyr)
c.874C>T (p.His292Tyr)
c.484C>T (p.His162Tyr)
c.73C>T (p.His25Tyr)
2g.206144932G>CCA350057175NDUFS1c.832C>G (p.His278Asp)
c.661C>G (p.His221Asp)
c.499C>G (p.His167Asp)
c.724C>G (p.His242Asp)
c.874C>G (p.His292Asp)
c.484C>G (p.His162Asp)
c.73C>G (p.His25Asp)
2g.206144932G>TCA350057173NDUFS1c.832C>A (p.His278Asn)
c.661C>A (p.His221Asn)
c.499C>A (p.His167Asn)
c.724C>A (p.His242Asn)
c.874C>A (p.His292Asn)
c.484C>A (p.His162Asn)
c.73C>A (p.His25Asn)
2g.206144933C>ACA350057177NDUFS1c.831G>T (p.Met277Ile)
c.660G>T (p.Met220Ile)
c.498G>T (p.Met166Ile)
c.723G>T (p.Met241Ile)
c.873G>T (p.Met291Ile)
c.483G>T (p.Met161Ile)
c.72G>T (p.Met24Ile)
2g.206144933C=CA2496487371NDUFS1c.831G= (p.Met277=)
c.660G= (p.Met220=)
c.498G= (p.Met166=)
c.723G= (p.Met241=)
c.873G= (p.Met291=)
c.483G= (p.Met161=)
c.72G= (p.Met24=)

Number of alleles fetched